D86N (p.Asp86Asn) variant of COL7A1 (Collagen alpha-1(VII) chain)
D86N (p.Asp86Asn) in COL7A1 (Collagen alpha-1(VII) chain) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not specified; not provided. The record also includes variant effect predictions and population frequency data.
D86N (p.Asp86Asn) variant details
- p.Asp86Asn
- rs1227369277
- ClinGen CA352749176
- ClinVar RCV003075897
- ClinVar RCV003491235
- Uncertain significance
- not specified; not provided
- Missense
- CADD 25.10
- PolyPhen-2 0.57
- SIFT 0.07
- ClinVar: Uncertain significance (not specified; not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the REMAINING population (allele frequency 3.3e-05)